Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:CYP24A1
|
| gptkbp:associatedWith |
idiopathic infantile hypercalcemia
|
| gptkbp:encodes |
cytochrome P450 family 24 subfamily A member 1
|
| gptkbp:Entrez_Gene_ID |
1591
|
| gptkbp:enzymeCommissionNumber |
EC 1.14.15.16
|
| gptkbp:expressedIn |
gptkb:kidney
liver intestine |
| gptkbp:function |
catalyzes 24-hydroxylation of vitamin D metabolites
|
| https://www.w3.org/2000/01/rdf-schema#label |
CYP24
|
| gptkbp:involvedIn |
vitamin D metabolism
|
| gptkbp:locatedOnChromosome |
gptkb:20q13.2
|
| gptkbp:mutationAssociatedWith |
gptkb:hypercalcemia
nephrolithiasis |
| gptkbp:OMIM |
126065
|
| gptkbp:orthologInMouse |
Cyp24a1
|
| gptkbp:regulates |
induced by 1,25-dihydroxyvitamin D3
suppressed by parathyroid hormone levels of active vitamin D (1,25-dihydroxyvitamin D3) |
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q07973
|
| gptkbp:bfsParent |
gptkb:CYP24_family
|
| gptkbp:bfsLayer |
5
|